Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1.

Bullous congenital ichthyosiform erythroderma (BCIE) is characterized by blistering and erythroderma in infancy and by erythroderma and ichthyosis thereafter. Epidermolytic hyperkeratosis is a hallmark feature of light and electron microscopy. Here we report on four individuals from two families wit...

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Hlavní autoři: Sybert, V P, Francis, J S, Corden, L D, Smith, L T, Weaver, M, Stephens, K, McLean, W H
Médium: Artigo
Jazyk:Inglês
Vydáno: 1999
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377790/
https://ncbi.nlm.nih.gov/pubmed/10053007
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